Minimal invasive vertical muscle transposition for the treatment of large angle exotropia due to congenital medial rectus hypoplasia: Case Report and Literature Review.

Reports of isolated anomalies of the medial rectus (MR) muscle in literature are sparse. It has been identified as a subtype of congenital cranial dysinnervation disorder that affects the normal development of brainstem motor neurons. Herein, we report a 37-year-old male presented with large-angle exotropia since the birth of right eye with palpebral fissure widening. On examination of ocular movements, there was -6 limitation of adduction. There was no limitation in other ocular movements. In the preoperative CT scan, all extraocular muscles were present. He underwent surgery in right eye. Intraoperatively in the site of medial rectus, we found an empty sheath without muscle fibers indicating medial rectus hypoplasia. The width of muscle insertion was normal. Surgery consisted of lateral rectus muscle recession 10 mm in hang-back method and vertical muscle transposition procedure, by a modification of Nishida technique, in which the vector of superior and inferior recti was transposed medially by inserting non-absorbable sutures at nasal margins of muscles secured to sclera 8 mm posterior to medial rectus site without tenotomy or splitting. The deviation was decreased to less than 10 PD exotropia in primary position. The adduction was improved from -6 to -4. The palpebral fissure asymmetry was also corrected. Here, we also reviewed clinical features of all cases of medial rectus hypoplasia/aplasia in the literature and discussed surgical approaches. For vertical rectus transposition and horizontal muscle weakening, this technique has the advantages of being simpler and less traumatic to ocular tissues and unlike the traditional transposition procedures, there is no need for tenotomy and splitting.

Case Report: Microcephaly in Twins due to the Zika Virus.

Recent studies have demonstrated an association between congenital Zika virus (ZIKV) infection and microcephaly; however, to date, there have been no reports on the consequences of ZIKV infection on fetuses in twin pregnancies. Herein, we reported on the first case of a monochorionic diamniotic (MCDA) twin pregnancy having ZIKV-related microcephaly. Our findings suggested that, in an MCDA twin pregnancy, the ZIKV may cause infection in both fetuses, resulting in severe abnormalities in the central nervous system due to neural cell destruction and the disruption of the normal development processes of the brain. This case report and other similar twin cases may help to understand the pathogenesis and to confirm the etiology of ZIKV as a teratogenic microorganism.

Congenital dystrophic medial rectus muscles.

We report two patients, one with congenital dystrophic medial rectus muscles and one with absence of the medial rectus muscles; in addition, one of them had absence of the lateral rectus muscles. While absence of the superior oblique and superior rectus has been more commonly reported in literature, especially with craniofacial syndromes, our patients were nonsyndromic. Considering the risk of anterior segment ischemia, correction of the large-angle exotropia was performed by horizontal rectus muscle surgery where possible, along with transfer of the superior oblique tendon to the superior part of the normal medial rectus muscle insertion area to create a tethering effect with a good outcome.

Bilateral superior rectus transposition for congenital exotropia associated with anomalous medial rectus muscles.

Superior rectus transposition to the lateral rectus insertion without inferior rectus transposition has been used to correct esotropic deviations secondary to Duane syndrome and abducens nerve palsy. This is usually combined with an augmented posterior fixation suture of the superior rectus muscle to the lateral rectus muscle and ipsilateral medial rectus recession. We report a child with a large-angle congenital exotropia who was found to have anomalous medial rectus muscles bilaterally. Bilateral superior rectus transposition to the medial rectus insertion with bilateral lateral rectus recessions achieved good ocular alignment in primary position.

Anterior and nasal transposition of the inferior oblique muscle for dissociated vertical deviation associated with inferior oblique muscle overaction.

PURPOSE: To determine outcomes after anterior and nasal transposition of the inferior oblique muscle for dissociated vertical deviation (DVD) associated with inferior oblique overaction. METHODS: A total of 10 patients who had bilateral DVD with ipsilateral inferior oblique muscle overaction were included in this study. Patients underwent anterior and nasal transposition of the inferior oblique muscles to the medial edge of the inferior rectus muscle insertion; the horizontal rectus muscle was operated on for horizontal strabismus in 2 cases. The primary outcome variables were changes in DVD, inferior oblique muscle action, V pattern, and vertical deviation in primary and side gazes. Patients were evaluated 6 to 10 months (mean, 7.3 months) postoperatively for alignment and oculomotor examination. RESULTS: Mean age at the time of surgery was 17.5 years. The average preoperative DVD for all eyes was 18.3(Delta) +/- 6.8(Delta), which decreased to 5.0(Delta) +/- 3.1(Delta) (p < 0.001) at 6 months. Mean inferior oblique muscle overaction decreased from +2.1 (range, +1 to +3) to +0.40 (range, -1 to 2). The mean preoperative V pattern was 24.9(Delta). After surgery, the mean correction of the V pattern was 14.8(Delta). Four patients developed 2(Delta) to 5(Delta) postoperative hypotropias in primary position at 6 months. CONCLUSIONS: Anterior and nasal transposition of the inferior oblique muscle reduces DVD, V pattern, and inferior oblique muscle overaction with minimal complications.

A novel form of aberrant innervation in congenital cranial dysinnervation disorder.

Certain forms of congenital incomitant strabismus are associated with abnormal cranial nerve development and resultant abnormal orbital innervation (eg, Duane retraction syndrome, congenital fibrosis of the extraocular muscles [CFEOM]); such conditions can be considered congenital cranial dysinnervation disorders (CCDDs). In addition to duction limitation and/or ptosis, orbital CCDD phenotypes include inappropriate extraocular muscle and/or levator innervation by nerves intended for innervation of other structures (eg, some of the innervation intended for the medial rectus muscle inappropriately innervating the ipsilateral lateral rectus muscle in Duane retraction syndrome). This report documents a unique orbital dysinnervational pattern-supraduction during attempted adduction and infraduction during attempted abduction in the left affected eye of a girl with exotropia and enophthalmos.

Mosaicismo de trisomía 9: caso de larga supervivencia / Mosaic trisomy 9: report of a new case with a long-term survival

Introducción: La trisomía 9 es una aneuploidía infrecuente y, por tanto, difícil de sospechar. Objetivo: Comunicar un nuevo caso de mosaicismo de trisomía 9, de larga supervivencia, para contribuir al mejor conocimiento de sus características clínicas y pronóstico. Caso clínico: Primera hija de padres sanos. Retraso de crecimiento intrauterino asimétrico y oligohidramnios. Nace a las 34 semanas con 1.478 g de peso, depresión respiratoria y fenotipo anómalo: dolicocefalia; hipotelorismo, microftalmia, hendiduras palpebrales pequeñas; nariz de base ancha y punta en bulbo; micrognatia; orejas de implantación baja, y anomalías en las manos y los pies. Ausencia de malformaciones en los órganos internos. Cariotipo: normal (46,XX). A los 17 meses, ante el retraso psicomotor evidente y las alteraciones descritas se realiza un segundo cariotipo convencional insistiendo en el análisis de un mayor número de células. Se halla un mosaicismo de trisomía 9 (46,XX/47,XX, 1 9). Como dato fenotípico curioso, a los 24 meses aparece un incisivo único superior medial, no descrito antes en otros casos de trisomía 9. Actualmente, tiene 4 años, un retraso mental profundo y ninguna otra complicación. Comentarios: Destaca la mayor dificultad diagnóstica de los mosaicismos; por lo que se debe insistir en el análisis de un número suficiente de células al estudiar el cariotipo. Además, es importante su diagnóstico en sujetos con anomalías fenotípicas, para dar información correcta a los padres en orden a su pronóstico y a la futura descendencia (AU)

Introduction: Trisomy 9 is an uncommon chromosome abnormality that may be seen in a mosaic or non-mosaic state. Objective: To better define the phenotype and prognosis of this disorder we report a new case of mosaic trisomy 9 with a long-term survival. Clinical report: We present the case of a female patient, born from the first pregnancy of a healthy couple. Fetal ultrasounds disclosed intrauterine growth retardation and oligohydramnios. Cesarean section was performed in the 34th week. Birth weight was 1,478 g. Neonatal examination showed: dolichocephaly; hypotelorism, microphthalmia, short palpebral fissures; broad-based nose with bulbous tip; micrognathia; low-set malformed ears; abnormal hands and feet; no other malformations. The initial karyotype determination was normal (46,XX). At 17 months of age, a second karyotype was requested because the patient developed severe psychomotor retardation. Chromosome analysis showed mosaic trisomy 9 (46,XX/47,XX, 1 9). Six months later, a single upper central incisor was noted. To our knowledge, this feature has not been reported previously in the trisomy 9. The patient is now 4 years old. She shows severe psychomotor retardation, but no other complications. Comments: It is important to be aware of the possibility that mosaicism may exist in a patient with normal blood karyotype and abnormal phenotype. We conclude that a great number of cells is needed in order to obtain a correct karyotype diagnosis. Correct diagnosis is essential to define the prognosis and provide accurate genetic counseling (AU)

Sensory results after lateral rectus muscle recession for intermittent exotropia operated before two years of age.

INTRODUCTION: Early surgical treatment of early-onset intermittent exotropia is controversial. The condition does not always progress, and postoperative esotropia can produce adverse consequences, such as suppression, amblyopia, and loss of binocular vision, particularly stereopsis. It is not known whether surgery before age two years affects the sensory outcome. METHODS: Using a noncomparative (nonrandomized, uncontrolled) interventional case series, we reviewed the medical records during a 14-year period of 24 patients with intermittent exotropia with onset before age 1 year who also received bilateral lateral rectus muscle recessions before two years of age. Twelve patients were identified who received follow-up examinations at ages > or =4 years, when testing with Worth 4-Dot and Titmus stereo circles would likely be reliable. RESULTS: Mean age of the patients at last follow-up examination was 87 months. Stereoacuity was measured at 40 arcsec in 2 patients, 100 arcsec in 3 patients, 140-400 arcsec in 2 patients, and none in 5 patients. Among the 5 patients without demonstrated stereopsis, 1 had a history and clinical course consistent with congenital exotropia, and 1 had a nonstrabismic explanation for poor stereopsis. Overall, 7 patients (58%) ultimately obtained favorable motor alignment, defined as a phoria or intermittent tropia <10(Delta) at distance and near. No patient required treatment for amblyopia. CONCLUSIONS: Early-onset intermittent exotropia usually responds well to surgical treatment, and high-grade stereopsis can be achieved in some cases. More than one clinical entity presenting as intermittent exotropia in infancy probably exists.

Anterior and nasal transposition of the inferior oblique muscles in patients with missing superior oblique tendons.

INTRODUCTION: Patients with missing superior oblique (SO) tendons present with overelevation/underdepression in adduction. Unilateral cases often exhibit abnormal head postures, whereas in bilateral cases, there may be a marked V-pattern with upgaze exotropia. These patients may have craniosynostosis. METHODS: Nine children with unilateral (n = 2) or bilateral (n = 7) absent SO tendons underwent anterior and nasal transposition of the inferior oblique (IO) muscles, some in combination with horizontal rectus recession for horizontal strabismus. They were evaluated 6 to 46 months postoperatively for alignment and oculomotor examination. Cyclodeviations were not evaluated in most children. RESULTS: Postoperatively, all patients improved. Both unilateral cases were orthotropic with no abnormal head posture. In the bilateral cases, vertical deviation in adduction and exotropia in upgaze had largely cleared, although some symptoms remained, most notably vertical deviation in side gaze (3 patients) and V-pattern esotropia in downgaze (2 patients). A patient missing both SO tendons as well as the left superior rectus muscle, who had the anterior and nasal transposition on the right side only, remained with 25(Delta) left hypotropia. CONCLUSIONS: Anterior and nasal transposition of the IO muscle reduces overelevation in adduction and helps eliminate or reduce divergence of the eyes in upgaze, but esodeviation may persist in downgaze. This procedure was most effective in unilateral absence of the SO tendon. It is likely to benefit patients with severe congenital fourth nerve palsy in which standard IO muscle weakening procedures have been ineffective.

Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.

Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a complex strabismus syndrome that results from mutations in the homeodomain transcription factor PHOX2A. To define the clinical and neuroimaging features of patients with this autosomal recessive syndrome, we studied 15 patients with genetically defined CFEOM2. All patients underwent full neurological, neuro-ophthalmological and orthoptic assessments. Twelve patients had pupillary pharmacological testing and nine had 3.0 tesla MRI of the brain, brainstem and orbits. Patients were born with severe bilateral ptosis and exotropia with almost complete bilateral absence of adduction, elevation, depression and intorsion. Variable abduction was present prior to strabismus surgery in 14 patients, and central ocular motility reflexes (smooth pursuit, saccades, vestibulo-ocular reflex and optokinetic reflex) were intact except for convergence. Pupillary light and near reflexes were not present, but irises were anatomically normal and responded to pupillary pharmacology. Neuroimaging of brain and brainstem was remarkable for the anatomical absence of cranial nerve (CN) 3 and probably CN 4 bilaterally. Therefore, the CFEOM2 phenotype and neuroimaging are both consistent with the congenital absence of CNs 3 and 4. Additional features included presence of most central ocular motility reflexes, a central lack of pupillary responsiveness of uncertain aetiology and modest phenotypic variability that does not correlate with specific PHOX2A mutations. Clinical presentation, neuroimaging and Phox2a-/- animal models all support the concept that CFEOM2 is a primary neurogenic abnormality with secondary myopathic changes.

A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).

PURPOSE: To describe the clinical features of two affected members of an Iranian family with autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2) and to report their novel mutation in the PHOX2A/ARIX gene. DESIGN: Experimental study. SETTING: Institutional practice. patient population:Six members of an Iranian family with CFEOM underwent complete ocular examinations including assessment of ocular motility, visual acuity, slit-lamp biomicroscopy, tonometry, and ophthalmoscopy. EXPERIMENTAL PROCEDURE: Mutation analysis of the PHOX2A gene was performed using polymerase chain reaction amplification of the coding exons and direct sequencing of polymerase chain reaction products. MAIN OUTCOME MEASURE: Presence or absence of mutation in PHOX2A gene in two siblings with exotropia and recessive CFEOM. Exotropia and ptosis were corrected surgically in one of the two siblings. RESULTS: The two affected siblings had bilateral ptosis and exotropia and severe limitation of all extraocular movements. One patient underwent strabismus surgery and ptosis repair. PHOX2A mutation analysis revealed a novel nonsense mutation in exon 2 (439C-->T). Both parents and the unaffected siblings were heterozygous,and the two affected siblings were homozygous for this mutation. CONCLUSIONS: The 439C-->T mutation in this family changes a glutamine to a stop codon (Q90X) at the beginning of the PHOX2A homeodomain region. This is the fourth CFEOM2 mutation in PHOX2A and the first nonsense mutation to be identified. It confirms PHOX2A as the autosomal recessive CFEOM2 disease gene and provides evidence that the phenotypic differences between PHOX2A mutations in man and mouse do not result from hypomorphic PHOX2A alleles in humans.

Accessory lateral rectus muscle in a patient with congenital third-nerve palsy.

PURPOSE: To report a case of accessory lateral rectus muscle in a patient with congenital third-nerve palsy. DESIGN: Observational case report. METHODS: An 18-year-old boy with left exodeviation, ptosis, pupil dilation, and limited adduction, supraduction, and infraduction of his left eye. Left lateral rectus muscle recession and medial rectus muscle resection were done. An orbital computed tomographic (CT) scan was obtained. RESULT: Intraoperatively, an accessory muscle was found under the lateral rectus muscle. Postoperatively, the orbital CT scan showed accessory lateral rectus muscle located in the medial side of the lateral rectus muscle. CONCLUSION: Accessory lateral rectus muscle was demonstrated in a patient with congenital third-nerve palsy using lateral rectus muscle surgery and an orbital CT scan.

[Complications of a voluminous congenital ciliary body cyst]. / Komplikationen einer grossen kongenitalen Ziliarkörperzyste.

BACKGROUND: Multiple cysts of iris and ciliary body may cause many complications such as acute or chronic angle closure glaucoma. PATIENT: We present a boy with multiple congenital cysts of the iris pigment epithelium and a voluminous cyst of the unpigmented ciliary body epithelium of the right eye. This resulted in lenticular astigmatism, concomitant strabismus divergens and subsequently to anisometropia. The voluminous cyst (8 x 12 mm in diameter) was folded around the lens, reached the optic axis and resulted in displacement of the lens and contact between the iris and the corneal endothelium from 6.30 to 11. After puncture and partial resection of the cyst at the age of 8 months the boy developed a subcapsular multivesicular cataractic clouding of the temporal lens and a progredient myopia (up to - 14.0/- 2.0/0 degrees ); in contrast the left eye was hyperopic (+ 3.5/- 3.75/0 degrees ). The lens was subluxated superonasally due to congenital damage of the zonular fibres. Because development of visual acuity seemed limited by these determinants (20/200 at the right eye), cataract surgery with posterior capsulorhexis, anterior vitrectomy, and implantation of a capsular tension ring and posterior chamber intraocular lens was performed at the age of nearly five. Actually, there is an orthotropia, best corrected visual acuity in the distance of 20/32 in the right and 20/20 in the left eye; binocular vision is somewhat restricted. CONCLUSION: Usually congenital cysts are clinically not very relevant; occasionally surgical intervention is required to ensure adequate development of visual acuity.

Long-term outcome of uncomplicated infantile exotropia.

PURPOSE: The term congenital exotropia (XT) is typically reserved for patients presenting in the first year with a large, constant angle, however, no published study provides a rationale for this restrictive definition. In this study, the present classification system for XT was evaluated and differences between infants with constant versus intermittent XT at presentation were characterized. METHODS: Medical records of all patients diagnosed with XT before 12 months of age between 1980 and 1994 were identified by computer search. Exclusion criteria included previous eye muscle surgery, resolution of the XT by 3 months of age, and concomitant systemic or ocular disease. Patients were separated into intermittent XT and constant XT groups. The clinical characteristics and outcomes of these two groups were compared. RESULTS: Of 2018 patients examined on our service during the first year of life for all causes, 23 (1.1 %) met the inclusion criteria. Follow-up data of more than 1 year was available for 13 patients, and of these, 46% had constant XT. The 2 groups had similar clinical features at presentation except for a larger initial angle in the constant XT group (P =.02). Average follow-up was 58 months (range: 13-158 months). Twelve patients (92%) required surgery. The reoperation rate was 27%, and 82% had final horizontal deviations of less than 10 PD. The incidence of A/V-patterns (38%), dissociated vertical deviation (46%), and binocularity (70%) was similar between groups. CONCLUSION: Half of infantile XT patients may present with intermittent XT, with similar clinical outcomes regardless of presentation. Surgical intervention resulted in successful alignment in most cases. More than half the patients developed measurable stereopsis, but none achieved bifixation.

Esophageal smooth muscle tumor in a 25-year-old woman with congenital malformations.

We recently treated a 25-year-old woman with an esophageal smooth muscle tumor with congenital malformations. Although the large size of the tumor and the presence of hemonecrotic lesion suggested the tumor to be leiomyosarcoma, histological studies revealed it to be leiomyoma. According to previous reports in the English-language literature, the coincidence of esophageal smooth muscle tumor with congenital malformations is relatively rare, and the coincidence of such a tumor with malformations of the type seen in this patient has never been reported. The congenital malformations in our patient were ocular hypertelorism, platyrrhiny, bilateral divergent strabismus, clubbed fingers and toes, fingerprint abnormality, and mild mental retardation. These congenital malformations cannot be explained by any reported syndromes.

Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles.

PURPOSE: Autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2) has been described in families from Saudi Arabia. Affected individuals have ptosis and exotropic ophthalmoplegia, and their disease has been mapped to chromosome 11q13. Here, we describe the phenotypic findings in a similarly affected Yemenite family and analyze the family for linkage to the CFEOM2 locus, as well as to the autosomal dominant CFEOM1 and CFEOM3 loci on chromosomes 12cen and 16q24, respectively. METHODS: The family was ascertained through two affected daughters. There are four unaffected siblings, and the parents are consanguineous. Each family member was examined, and linkage analysis was performed using markers from the CFEOM1, CFEOM2, and CFEOM3 loci. RESULTS: Both affected daughters have congenital bilateral ophthalmoplegia. The 15-month-old proband has restrictive exotropia. She fixates with either eye in abduction and with a compensatory head turn to the opposite side. Her 4-year-old sister has a small exotropia and severely limited eye movements. All other family members have normal ophthalmologic examinations. Genetic analysis excluded linkage of the family's disease to the CFEOM2 and CFEOM3 loci. A lod score of 2.0 (the maximum possible, given the family size and structure), was obtained at the CFEOM1 locus, and the alleles reduced to homozygosity in both affected daughters and none of the other children. CONCLUSIONS: These data establish that there is genetic heterogeneity in autosomal recessive CFEOM and suggest that this second recessive locus may be allelic to the autosomal dominant CFEOM1 locus at 12cen.